日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder

一种进行性RBL2相关神经发育障碍的临床和遗传特征

Aughey, Gabriel N; Cali, Elisa; Maroofian, Reza; Zaki, Maha S; Pagnamenta, Alistair T; Ali, Zafar; Abdulllah, Uzma; Rahman, Fatima; Menzies, Lara; Shafique, Anum; Suri, Mohnish; Roze, Emmanuel; Aguennouz, Mohammed; Ghizlane, Zouiri; Saadi, Saadia Maryam; Fatima, Ambrin; Cheema, Huma Arshad; Anjum, Muhammad Nadeem; Morel, Godelieve; Robin, Stephanie; McFarland, Robert; Altunoglu, Umut; Kraus, Verena; Shoukier, Moneef; Murphy, David; Flemming, Kristina; Yttervik, Hilde; Rhouda, Hajar; Lesca, Gaetan; Chatron, Nicolas; Rossi, Massimiliano; Murtaza, Bibi Nazia; Ur Rehman, Mujaddad; Lord, Jenny; Giacopuzzi, Edoardo; Hayat, Azam; Siraj, Muhammad; Shervin Badv, Reza; Seo, Go Hun; Beetz, Christian; Kayserili, Hülya; Krioulie, Yamna; Chung, Wendy K; Naz, Sadaf; Maqbool, Shazia; Chandler, Kate E; Kershaw, Christopher J; Wright, Thomas; Banka, Siddharth; Gleeson, Joseph G; Taylor, Jenny C; Efthymiou, Stephanie; Baig, Shahid Mahmood; Severino, Mariasavina; Jepson, James E C; Houlden, Henry

Dysregulation of FLVCR1a-dependent mitochondrial calcium handling in neural progenitors causes congenital hydrocephalus

神经祖细胞中FLVCR1a依赖性线粒体钙处理的失调导致先天性脑积水

Francesca Bertino ,Dibyanti Mukherjee ,Massimo Bonora ,Christoph Bagowski ,Jeannette Nardelli ,Livia Metani ,Diletta Isabella Zanin Venturini ,Diego Chianese ,Nicolas Santander ,Iris Chiara Salaroglio ,Andreas Hentschel ,Elisa Quarta ,Tullio Genova ,Arpana Arjun McKinney ,Anna Lucia Allocco ,Veronica Fiorito ,Sara Petrillo ,Giorgia Ammirata ,Francesco De Giorgio ,Evan Dennis ,Garrett Allington ,Felicitas Maier ,Moneef Shoukier ,Karl-Philipp Gloning ,Luca Munaron ,Federico Mussano ,Ettore Salsano ,Davide Pareyson ,Maja di Rocco ,Fiorella Altruda ,Georgia Panagiotakos ,Kristopher T Kahle ,Pierre Gressens ,Chiara Riganti ,Paolo P Pinton ,Andreas Roos ,Thomas Arnold ,Emanuela Tolosano ,Deborah Chiabrando

Global Trial Representation and Availability of Tyrosine Kinase Inhibitors for Treatment of Chronic Myeloid Leukemia

全球临床试验参与情况及酪氨酸激酶抑制剂治疗慢性粒细胞白血病的可用性

Casey, Mycal; Odhiambo, Lorriane; Aggarwal, Nidhi; Shoukier, Mahran; Islam, K M; Cortes, Jorge

Prenatal Diagnosis of Fryns Syndrome through Identification of Two Novel Splice Variants in the PIGN Gene-A Case Series

通过鉴定PIGN基因中的两种新型剪接变异体进行Fryns综合征的产前诊断——病例系列

Marchetto, Aruna; Leidescher, Susanne; van Hoi, Theresia; Hirschberger, Niklas; Vogel, Florian; Köhler, Siegmund; Bedei, Ivonne Alexandra; Axt-Fliedner, Roland; Shoukier, Moneef; Keil, Corinna

Activity of decitabine as maintenance therapy in core binding factor acute myeloid leukemia

地西他滨作为核心结合因子急性髓系白血病维持治疗的活性

Senapati, Jayastu; Shoukier, Mahran; Garcia-Manero, Guillermo; Wang, Xuemei; Patel, Keyur; Kadia, Tapan; Ravandi, Farhad; Pemmaraju, Naveen; Ohanian, Maro; Daver, Naval; DiNardo, Courtney; Alvarado, Yesid; Aldrich, Jeffrey; Borthakur, Gautam

A Phase I Study of the Non-Receptor Kinase Inhibitor Bosutinib in Combination with Pemetrexed in Patients with Selected Metastatic Solid Tumors

非受体激酶抑制剂博舒替尼联合培美曲塞治疗特定转移性实体瘤患者的 I 期研究

Nagla Abdel Karim, Asad Ullah, Hongkun Wang, Mahran Shoukier, Steven Pulliam, Ahmed Khaled, Nikhil Patel, John C Morris

LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death

LMNA基因突变与猝死家族史密切相关

Keil, Laura; Berisha, Filip; Knappe, Dorit; Kubisch, Christian; Shoukier, Moneef; Kirchhof, Paulus; Fabritz, Larissa; Hellenbroich, Yorck; Woitschach, Rixa; Magnussen, Christina

Atypical Parkinsonism with Pathological Dopamine Transporter Imaging in Neuronal Ceroid Lipofuscinosis Type 5

神经元蜡样脂褐质沉积症5型伴病理性多巴胺转运体成像的非典型帕金森综合征

Lange, Lara M; Schell, Nathalie; Tunc, Sinem; Shoukier, Moneef; Weißbach, Anne; Hellenbroich, Yorck; Brüggemann, Norbert

The transcription factor Bcl11b promotes both canonical and adaptive NK cell differentiation

转录因子 Bcl11b 促进典型和适应性 NK 细胞分化

Tim D Holmes, Ram Vinay Pandey, Eric Y Helm, Heinrich Schlums, Hongya Han, Tessa M Campbell, Theodore T Drashansky, Samuel Chiang, Cheng-Ying Wu, Christine Tao, Moneef Shoukier, Eva Tolosa, Sandra Von Hardenberg, Miao Sun, Christian Klemann, Rebecca A Marsh, Colleen M Lau, Yin Lin, Joseph C Sun, Rob

Post-transplantation cyclophosphamide reduces the incidence of acute graft-versus-host disease in patients with acute myeloid leukemia/myelodysplastic syndromes who receive immune checkpoint inhibitors after allogeneic hematopoietic stem cell transplantation

移植后环磷酰胺可降低接受异基因造血干细胞移植后使用免疫检查点抑制剂的急性髓系白血病/骨髓增生异常综合征患者发生急性移植物抗宿主病的概率。

Saberian, Chantal; Abdel-Wahab, Noha; Abudayyeh, Ala; Rafei, Hind; Joseph, Jacinth; Rondon, Gabriela; Whited, Laura; Gruschkus, Stephen; Fa'ak, Faisal; Daher, May; Knape, Cristina; Safa, Houssein; Shoukier, Mahran; Suarez-Almazor, Maria E; Marcotulli, Megan; Ludford, Kaysia; Gulbis, Alison M; Konopleva, Marina; Ohanian, Maro; Ravandi, Farhad; Garcia-Manero, Guillermo; Oran, Betul; Popat, Uday R; Mehta, Rotesh; Alousi, Amin M; Daver, Naval; Champlin, Richard; Diab, Adi; Al-Atrash, Gheath